Genetic Test Details

WGS (Singleton, Duo, Trio, Quad)

Test Information

Titre
WGS (Singleton, Duo, Trio, Quad)
Catégorie
Genome-wide
Sub Category
Whole Genome Sequencing (WGS)
Gene/Platform/Region List
Whole genome
Test type
Genome-wide
Samples Accepted
DNA , Blood , Tissue
Indications
Diagnosis , Prenatal
Test Methodology
Sequencing , Real Time PCR
Methodology Notes
qPCR/Affymetrix array (CytoScan) for CNV confirmation, Sanger sequencing for variant confirmation
Disease/Condition
Rare genetic disorder

Dernière Mise à Jour: 18 juin 2025